Variant report

Variant	rs2517530
Chromosome Location	chr6:31019517-31019518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31019494-31019544	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:31019494-31019544	IMR90	lung:	fetal
3	chr6:31019494-31019544	PrEC	prostate:	n/a
4	chr6:31019494-31019544	HNPCEpiC	eye:	n/a
5	chr6:31019494-31019544	ovcar-3	ovarian:	n/a
6	chr6:31019494-31019544	AG10803	skin:	n/a
7	chr6:31019494-31019544	GM12892	blood:	n/a
8	chr6:31019494-31019544	A549	lung:	n/a
9	chr6:31019494-31019544	RPTEC	kidney:	n/a
10	chr6:31019494-31019544	NHBE	bronchial:	n/a
11	chr6:31019494-31019544	HCM	heart:	n/a
12	chr6:31019494-31019544	ProgFib	skin:	n/a
13	chr6:31019494-31019544	HepG2	liver:	n/a
14	chr6:31019494-31019544	PFSK-1	brain:	n/a
15	chr6:31019494-31019544	HCT-116	colon:	n/a
16	chr6:31019494-31019544	NT2-D1	testis:	n/a
17	chr6:31019494-31019544	HRPEpiC	eye:	n/a
18	chr6:31019494-31019544	AG09309	skin:	n/a
19	chr6:31019494-31019544	Hela-S3	cervix:	n/a
20	chr6:31019494-31019544	NHDF-neo	bronchial:	n/a
21	chr6:31019494-31019544	H1-hESC	embryonic stem cell:	embryo
22	chr6:31019494-31019544	GM19239	blood:	n/a
23	chr6:31019494-31019544	HL-60	blood:	n/a
24	chr6:31019494-31019544	GM12891	blood:	n/a
25	chr6:31019494-31019544	MCF-7	breast:	n/a
26	chr6:31019494-31019544	SK-N-SH	brain:	n/a
27	chr6:31019494-31019544	GM12878	blood:	n/a
28	chr6:31019494-31019544	SKMC	muscle:	n/a
29	chr6:31019494-31019544	BE2_C	brain:	n/a
30	chr6:31019494-31019544	HCF	heart:	n/a
31	chr6:31019494-31019544	ECC-1	luminal epithelium:	n/a
32	chr6:31019494-31019544	NH-A	brain:	n/a
33	chr6:31019494-31019544	Hepatocyte	liver:	n/a
34	chr6:31019494-31019544	MCF10A-Er-Src	breast:	n/a
35	chr6:31019494-31019544	HUVEC	blood vessel:	n/a
36	chr6:31019494-31019544	SK-N-SH_RA	brain:	n/a
37	chr6:31019494-31019544	HAEpiC	amniotic membrane:	n/a
38	chr6:31019494-31019544	Caco-2	colon:	n/a
39	chr6:31019494-31019544	AG09319	gingival:	n/a
40	chr6:31019494-31019544	PANC-1	pancreas:	n/a
41	chr6:31019494-31019544	LNCaP	prostate:	n/a
42	chr6:31019494-31019544	CMK	blood:	n/a
43	chr6:31019494-31019544	K562	blood:	n/a
44	chr6:31019494-31019544	NB4	blood:	n/a
45	chr6:31019494-31019544	GM06990	blood:	n/a
46	chr6:31019494-31019544	BJ	skin:	n/a
47	chr6:31019494-31019544	HEK293	kidney:	embryo
48	chr6:31019494-31019544	HRE	kidney:	n/a
49	chr6:31019494-31019544	U87	brain:	n/a
50	chr6:31019494-31019544	HMEC	breast:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31018538..31021131-chr6:31024335..31025981,2	K562	blood:

No data

Variant related genes	Relation type
HCG22	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2251825	0.80[AFR][1000 genomes]
rs2251830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508015	0.81[AMR][1000 genomes]
rs2517532	0.80[AFR][1000 genomes]
rs2517533	0.80[AFR][1000 genomes]
rs2523858	0.80[AFR][1000 genomes]
rs2523861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2523862	0.80[AFR][1000 genomes]
rs2523864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523866	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523867	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2844643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844644	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844645	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3131926	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884130	chr6:31014305-31038756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv884131	chr6:31014305-31040725	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31009600-31027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:31010600-31021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:31013800-31021600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:31016200-31021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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